Table 1
CD40L mutations in 11 Australian patients
| Patient no/age at diagnosis | CD40L expression (FC) | Exon/intron | Nucleotide change | AA change | Effect | CD40L database | Carrier status |
|---|---|---|---|---|---|---|---|
| The mutation nomenclature follows the guidelines of den Dunnen and Antonarakis10 and HUGO (www.hgvs.org/mutnomen/). The numbering of nucleotide and amino acid positions refers to the cDNA sequence (GeneBank accession number L07414.1), where the A of the ATG translation initiation start site represents nucleotide +1. The reported age is the age of the patient when flow cytometry and molecular analysis were performed. | |||||||
| *New mutation. | |||||||
| A, aunt; AA, amino acid; FC, flow cytometry; GM, grandmother; M, mother; ND, not done; S, sister. | |||||||
| 1/1 year | Absent | Exon 3 | c.322G>T* | E108X | Not reported | M+ | |
| 2/1 year | Absent | Intron 3 | c.346+2T>C | Skipping of exon | Reported6 | M+, GM+, S+, S− | |
| 3/2 years | Absent | Exon 4 | c.368C.>A | A123E | AA change in TNFα domain | Reported2 | M+, GM+ |
| 4/12 years | Absent | Intron 4 | c.409+1G>A | AA change in TNFα domain | Reported6 | ND | |
| 5/6 years | Absent | Exon 5 | c.420G>T | W140C | AA change in TNFα domain | Reported6 | ND |
| 6/20 years | Present | Exon 5 | c.431G>A | G144E | AA change in TNFα domain | Reported7 | M+, GM+, A+ |
| 7/27 years | Absent | Exon 5 | c.464T>C | L155P | AA change in TNFα domain | Reported8 | M −, S−, S − |
| 8/13 years, cousin of 9 | Absent | Exon 5 | c.499G>T* | G167X | Not reported | ND | |
| 9/14 years, cousin of 8 | Absent | Exon 5 | c.499G>T* | G167X | Not reported | M+ | |
| 10/1 year | Absent | Exon 5 | c.521A>G | Q174R | AA change in TNFα domain | Reported9 | ND |
| 11/5 years | Absent | Exon 5 | c.654C>A* | C218X | Not reported | S− | |
